Neonatal Gardner Fibroma Leads to Detection of Familial Adenomatous Polyposis: Two Case Reports

Abstract

Gardner fibromas (GFs) have only recently been described as poorly circumscribed tumor-like lesions, which are exceedingly rare in children. GFs are associated with APC gene mutations and therefore with familial adenomatous polyposis (FAP). So far there is only very limited literature on GF in the neonatal period. We present two children with GF diagnosed at birth and subsequent FAP with very different clinical courses. In one case, the disease led to extensive surgery of the thoracic wall and detection of FAP in the father with the need of immediate proctocolectomy. In the other patient (with a positive family history for FAP) the disease remained stable. Our cases indicate that the diagnosis of GF in the neonatal period requires the exclusion of FAP both in the child as well as the parents. Since the clinical behavior of GF cannot be predicted, continuous monitoring is mandatory. Depending on tumor site and growth, individual therapeutic options must be thoroughly considered. Surgical resection, if necessary, has to be inevitably total to prevent recurrence.

Keywords

Gardner fibroma - FAP - neonatology - familial adenomatous polyposis - premalignant lesion

• References

• 1 Half E, Bercovich D, Rozen P. Familial adenomatous polyposis. Orphanet J Rare Dis 2009; 4: 22
• 2 Fearnhead NS, Britton MP, Bodmer WF. The ABC of APC. Hum Mol Genet 2001; 10 (7) 721-733
• 3 Gardner EJ, Richards RC. Multiple cutaneous and subcutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis. Am J Hum Genet 1953; 5 (2) 139-147
• 4 Groen EJ, Roos A, Muntinghe FL , et al. Extra-intestinal manifestations of familial adenomatous polyposis. Ann Surg Oncol 2008; 15 (9) 2439-2450
• 5 Wehrli BM, Weiss SW, Yandow S, Coffin CM. Gardner-associated fibromas (GAF) in young patients: a distinct fibrous lesion that identifies unsuspected Gardner syndrome and risk for fibromatosis. Am J Surg Pathol 2001; 25 (5) 645-651
• 6 Clark SK, Smith TG, Katz DE, Reznek RH, Phillips RK. Identification and progression of a desmoid precursor lesion in patients with familial adenomatous polyposis. Br J Surg 1998; 85 (7) 970-973
• 7 Coffin CM. Gardner fibroma. In: Fletcher CDM, Unni KK, Mertens F, , eds. Pathology and Genetics: Tumours of Soft Tissue and Bone. World Health Organization Classification of Tumours. Lyons, France: IARC Press; 2002. https://www.iarc.fr/en/publications/pdfs-online/pat-gen/bb5/BB5.pdf
• 8 Cates JM, Stricker TP, Sturgeon D, Coffin CM. Desmoid-type fibromatosis-associated Gardner fibromas: prevalence and impact on local recurrence. Cancer Lett 2014; 353 (2) 176-181
• 9 Coffin CM, Hornick JL, Zhou H, Fletcher CD. Gardner fibroma: a clinicopathologic and immunohistochemical analysis of 45 patients with 57 fibromas. Am J Surg Pathol 2007; 31 (3) 410-416
• 10 Levesque S, Ahmed N, Nguyen VH , et al. Neonatal Gardner fibroma: a sentinel presentation of severe familial adenomatous polyposis. Pediatrics 2010; 126 (6) e1599-e1602
• 11 Vieira J, Pinto C, Afonso M , et al. Identification of previously unrecognized FAP in children with Gardner fibroma. Eur J Hum Genet 2015; 23 (5) 715-718
• 12 Kattentidt Mouravieva AA, Geurts-Giele IR, de Krijger RR , et al. Identification of Familial Adenomatous Polyposis carriers among children with desmoid tumours. Eur J Cancer 2012; 48 (12) 1867-1874
• 13 Robanus-Maandag E, Bosch C, Amini-Nik S , et al. Familial adenomatous polyposis-associated desmoids display significantly more genetic changes than sporadic desmoids. PLoS ONE 2011; 6 (9) e24354
• 14 Enomoto M, Konishi M, Iwama T, Utsunomiya J, Sugihara KI, Miyaki M. The relationship between frequencies of extracolonic manifestations and the position of APC germline mutation in patients with familial adenomatous polyposis. Jpn J Clin Oncol 2000; 30 (2) 82-88
• 15 Bertario L, Russo A, Sala P , et al; Hereditary Colorectal Tumor Registry. Multiple approach to the exploration of genotype-phenotype correlations in familial adenomatous polyposis. J Clin Oncol 2003; 21 (9) 1698-1707
• 16 Sinha A, Tekkis PP, Neale KF, Phillips RK, Clark SK. Risk factors predicting intra-abdominal desmoids in familial adenomatous polyposis: a single centre experience. Tech Coloproctol 2010; 14 (2) 141-146
• 17 Wallis YL, Morton DG, McKeown CM, Macdonald F. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet 1999; 36 (1) 14-20
• 18 Kitamura A, Kanagawa T, Yamada S, Kawai T. Effective chemotherapy for abdominal desmoid tumor in a patient with Gardner's syndrome. Report of a case. Dis Colon Rectum 1991; 34 (9) 822-826
• 19 Bhama PK, Chugh R, Baker LH, Doherty GM. Gardner's syndrome in a 40-year-old woman: successful treatment of locally aggressive desmoid tumors with cytotoxic chemotherapy. World J Surg Oncol 2006; 4: 96
• 20 Attard TM, Tajouri T, Peterson KD, Tinley S, Thorson AG, Lynch HT. Familial adenomatous polyposis in children younger than age ten years: a multidisciplinary clinic experience. Dis Colon Rectum 2008; 51 (2) 207-212
• 21 Distante S, Nasioulas S, Somers GR , et al. Familial adenomatous polyposis in a 5 year old child: a clinical, pathological, and molecular genetic study. J Med Genet 1996; 33 (2) 157-160
• 22 Caspari R, Friedl W, Mandl M , et al. Familial adenomatous polyposis: mutation at codon 1309 and early onset of colon cancer. Lancet 1994; 343 (8898): 629-632